Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

Article Details

Citation

Takahashi T, Desnick RJ, Takada G, Schuchman EH

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

Hum Mutat. 1992;1(1):70-1.

PubMed ID
1301192 [ View in PubMed
]
Abstract

Not Available

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Sphingomyelin phosphodiesteraseP17405Details